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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FAM135B
family with sequence similarity 135 member B
Chromosome 8 · 8q24.23
NCBI Gene: 51059Ensembl: ENSG00000147724.12HGNC: HGNC:28029UniProt: Q49AJ0
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglipid metabolic processalcohol drinkingsmoking initiationHydrocephalusfrozen shoulder
✦AI Summary

FAM135B (family with sequence similarity 135 member B) is a multifunctional protein implicated in cancer progression and cellular stress responses. Primary function: FAM135B acts as a regulator of protein interactions and cellular signaling, with roles in DNA damage response, alternative splicing regulation, and immune activation. Mechanism: FAM135B interacts with multiple partners including GRN, TIP60, SRSF1, and IFI16 to modulate distinct cellular pathways 1 2 3 4. It sustains TIP60-ATM assemblies to promote homologous recombination and non-homologous end-joining DNA repair 2, while also controlling SRSF1-mediated alternative splicing of DNA repair genes to regulate Fanconi anemia pathway activation 3. Additionally, FAM135B stabilizes IFI16 by blocking its ubiquitination, thereby activating STING-dependent cytotoxic T-cell responses 4. Disease relevance: FAM135B is frequently mutated in esophageal squamous cell carcinoma and colorectal cancer 5 3. High FAM135B expression correlates with poor prognosis and chemotherapy/radiotherapy resistance 1 6. Clinical significance: FAM135B represents a potential therapeutic target, with combination strategies targeting FAM135B alongside chemotherapy, radiation, or immunotherapy showing promise for improving cancer treatment outcomes.

Sources cited
1
FAM135B identified as novel cancer-implicated gene in esophageal squamous cell carcinoma with ability to promote malignancy
PMID: 24670651
2
FAM134B (related protein with reticulon homology domain) mediates ER-phagy and mutations cause neurodegenerative disease
PMID: 37225994
3
FAM135B controls SRSF1-mediated alternative splicing of DNA repair genes and activates Fanconi anemia pathway leading to chemotherapy resistance in colorectal cancer
PMID: 39397154
4
FAM135B interacts with GRN growth factor to activate AKT/mTOR signaling; high FAM135B/GRN expression correlates with worse ESCC prognosis
PMID: 33323378
5
FAM135B sustains TIP60-ATM assembly, enhances histone acetyltransferase activity, and promotes homologous recombination and non-homologous end-joining DNA repair
PMID: 35979619
6
FAM135B is highly expressed in ESCC and mediates radiotherapy resistance through PI3K/Akt/mTOR pathway regulation
PMID: 33340561
7
FAM135B stabilizes IFI16 by blocking TRIM21-mediated ubiquitination, activating STING pathway and cytotoxic T-cell activity in triple-negative breast cancer
PMID: 41218197
8
FAM135B identified as top linear model gene in colorectal cancer progression analysis across disease stages
PMID: 39484215
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.41Moderate
smoking initiationOpen Targets
0.41Moderate
HydrocephalusOpen Targets
0.32Weak
frozen shoulderOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
substance abuseOpen Targets
0.28Weak
Uterine CarcinosarcomaOpen Targets
0.26Weak
squamous cell lung carcinomaOpen Targets
0.25Weak
cardiomyopathyOpen Targets
0.25Weak
familial glucocorticoid deficiencyOpen Targets
0.24Weak
head and neck squamous cell carcinomaOpen Targets
0.23Weak
Genu valgumOpen Targets
0.23Weak
Genu varumOpen Targets
0.23Weak
prostate carcinomaOpen Targets
0.22Weak
tooth diseaseOpen Targets
0.21Weak
bile duct disorderOpen Targets
0.21Weak
polypOpen Targets
0.21Weak
male reproductive organ cancerOpen Targets
0.21Weak
esophageal squamous cell carcinomaOpen Targets
0.20Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF202Shared pathway100%PLCXD3Shared pathway100%PLCXD2Shared pathway100%GDPD4Shared pathway100%LIPJShared pathway100%TPRA1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
7%
Liver
4%
Bone Marrow
2%
Ovary
1%
Lung
0%
Gene Interaction Network
Click a node to explore
FAM135BZNF202PLCXD3PLCXD2GDPD4LIPJTPRA1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q49AJ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.25–0.44]
RankingsWhere FAM135B stands among ~20K protein-coding genes
  • #14,149of 20,598
    Most Researched20
  • #2,451of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedFAM135B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of genomic alterations in oesophageal squamous cell cancer.
PMID: 24670651
Nature · 2014
1.00
2
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
PMID: 37225994
Nature · 2023
0.90
3
Aberrant FAM135B attenuates the efficacy of chemotherapy in colorectal cancer by modulating SRSF1-mediated alternative splicing.
PMID: 39397154
Oncogene · 2024
0.80
4
A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression.
PMID: 33323378
Cancer Res · 2021
0.70
5
FAM135B sustains the reservoir of Tip60-ATM assembly to promote DNA damage response.
PMID: 35979619
Clin Transl Med · 2022
0.60